Literature DB >> 15368487

Clinical application of genetic testing for deafness.

Richard J H Smith1.   

Abstract

Advances in the molecular biology of hearing and deafness have identified many genes essential for normal auditory function. Allele variants of these genes cause nonsyndromic deafness, making mutation screening a valuable test to unequivocally diagnose many different forms of inherited deafness. In this study, genetic testing of GJB2, SLC26A4 and WFS1 is reviewed. Copyright 2004 Wiley-Liss, Inc.

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Year:  2004        PMID： 15368487     DOI： 10.1002/ajmg.a.30053

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  3 in total

1.  Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Authors:  Saima Riazuddin; Shaheen N Khan; Zubair M Ahmed; Manju Ghosh; Kyle Caution; Sabiha Nazli; Madhulika Kabra; Ahmad U Zafar; Kevin Chen; Sadaf Naz; Anthony Antonellis; William J Pavan; Eric D Green; Edward R Wilcox; Penelope L Friedman; Robert J Morell; Sheikh Riazuddin; Thomas B Friedman
Journal:  Am J Hum Genet       Date:  2005-11-21       Impact factor: 11.025

2.  Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.

Authors:  Qi Li; Qing-wen Zhu; Yong-yi Yuan; Sha-sha Huang; Dong-yi Han; De-liang Huang; Pu Dai
Journal:  J Transl Med       Date:  2012-11-14       Impact factor: 5.531

3.  Attitudes to genetic testing for deafness: the importance of informed choice.

Authors:  Marilys Guillemin; Lynn Gillam
Journal:  J Genet Couns       Date:  2006-02       Impact factor: 2.717
  3 in total

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